|
LAMA2
(HGNC:6482)
|
LAMA2-related muscular dystrophy
(MONDO_0100228)
|
Definitive
|
|
|
LAMA3
(HGNC:6483)
|
laryngo-onycho-cutaneous syndrome
(MONDO_0009513)
|
Strong
|
|
|
LAMA3
(HGNC:6483)
|
junctional epidermolysis bullosa Herlitz type
(MONDO_0009182)
|
Strong
|
|
|
LAMA2
(HGNC:6482)
|
muscular dystrophy, limb-girdle, autosomal recessive 23
(MONDO_0029136)
|
Moderate
|
|
|
LAMA2
(HGNC:6482)
|
congenital merosin-deficient muscular dystrophy 1A
(MONDO_0011925)
|
Definitive
|
|
|
AFF3
(HGNC:6473)
|
KINSSHIP syndrome
(MONDO_0851095)
|
Strong
|
|
|
L1CAM
(HGNC:6470)
|
L1 syndrome
(MONDO_0017140)
|
Definitive
|
|
|
AFF3
(HGNC:6473)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
L1CAM
(HGNC:6470)
|
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
(MONDO_0010611)
|
Definitive
|
|
|
L1CAM
(HGNC:6470)
|
MASA syndrome
(MONDO_0010559)
|
Definitive
|
|
|
KYNU GENE
(HGNC:6469)
|
congenital vertebral-cardiac-renal anomalies syndrome
(MONDO_0020831)
|
Moderate
|
|
|
KRT83
(HGNC:6460)
|
erythrokeratodermia variabilis
(MONDO_0017851)
|
Limited
|
|
|
AR
(HGNC:644)
|
complete androgen insensitivity syndrome
(MONDO_0021023)
|
Definitive
|
|
|
KRT81
(HGNC:6458)
|
monilethrix
(MONDO_0008009)
|
Refuted
|
|
|
AR
(HGNC:644)
|
androgen insensitivity syndrome
(MONDO_0019154)
|
Definitive
|
|
|
AR
(HGNC:644)
|
Kennedy disease
(MONDO_0010735)
|
Definitive
|
|
|
AR
(HGNC:644)
|
partial androgen insensitivity syndrome
(MONDO_0010720)
|
Strong
|
|
|
KRT5
(HGNC:6442)
|
epidermolysis bullosa simplex 2E, with migratory circinate erythema
(MONDO_0012258)
|
Strong
|
|
|
KRT5
(HGNC:6442)
|
Dowling-Degos disease
(MONDO_0008371)
|
Strong
|
|
|
KRT5
(HGNC:6442)
|
epidermolysis bullosa simplex 2F, with mottled pigmentation
(MONDO_0007556)
|
Strong
|
|